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Interpretation 230
Tier 2
GNAS
Variants
GNAS Q227L
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

This GNAS mutation causes constitutive activation of the G-protein complex and activates adenylate cyclase to produce cyclic-AMP (cAMP) that can activate oncogenic pathways. The frequency of GNAS mutation in non-small cell carcinoma of the lung cases is relatively low (<5%) and its significance remains to be fully elucidated.

Citations
  1. Han JY, et al. Comparison of targeted next-generation sequencing with conventional sequencing for predicting the responsiveness to epidermal growth factor receptor-tyrosine kinase inhibitor (EGFR-TKI) therapy in never-smokers with lung adenocarcinoma. Lung Cancer 2014;85(2):161-7
  2. Takada M, et al. Prediction of lymph node metastasis by analysis of gene expression profiles in non-small cell lung cancer. J Surg Res 2004;122(1):61-9
  3. Sun W, et al. Identification of differentially expressed genes in human lung squamous cell carcinoma using suppression subtractive hybridization. Cancer Lett 2004;212(1):83-93
  4. Masters SB, et al. Mutations in the GTP-binding site of GS alpha alter stimulation of adenylyl cyclase. J Biol Chem 1989;264(26):15467-74
Last updated: 2016-02-12 20:40:08 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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